REFERENCES
1. Corrado D, Link MS, Calkins H. Arrhythmogenic right ventricular cardiomyopathy. N Engl J Med 2017;376:61-72.
2. Corrado D, Basso C, Thiene G, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol 1997;30:1512-20.
3. Marcus FI, Fontaine GH, Guiraudon G, et al. , Right ventricular dysplasia: a report of 24 adult cases. Circulation 1982;65:384-98.
4. Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M. Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation 1996;94:983-91.
5. Sen-Chowdhry S, Syrris P, Prasad SK, et al. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol 2008;52:2175-87.
6. McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000;355:2119-24.
7. Rampazzo A, Nava A, Malacrida S, et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002;71:1200-6.
8. Gerull B, Heuser A, Wichter T, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004;36:1162-4.
9. Heuser A, Plovie ER, Ellinor PT, et al. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2006;79:1081-8.
10. Pilichou K, Nava A, Basso C, et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006;113:1171-9.
11. Smith ED, Lakdawala NK, Papoutsidakis N, et al. Desmoplakin cardiomyopathy, a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy. Circulation 2020;141:1872-84.
12. Mayosi BM, Fish M, Shaboodien G, et al. Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy. Circ Cardiovasc Genet 2017;10:e001605.
13. van Hengel J, Calore M, Bauce B, et al. Mutations in the area composita protein alphaT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2013;34:201-10.
14. Ortiz-Genga MF, Cuenca S, Dal Ferro M, et al. Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies. J Am Coll Cardiol 2016;68:2440-51.
15. van der Zwaag PA, van Rijsingen IA, Asimaki A, et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail 2012;14:1199-207.
16. Parikh VN, Caleshu C, Reuter C, et al. Regional variation in RBM20 causes a highly penetrant arrhythmogenic cardiomyopathy. Circ Heart Fail 2019;12:e005371.
17. Quarta G, Syrris P, Ashworth M, et al. Mutations in the lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2012;33:1128-36.
18. Merner ND, Hodgkinson KA, Haywood AF, et al. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet 2008;82:809-21.
19. Broussard JA, Getsios S, Green KJ. Desmosome regulation and signaling in disease. Cell Tissue Res 2015;360:501-12.
20. Manring HR, Dorn LE, Ex-Willey A, Accornero F, Ackermann MA. At the heart of inter- and intracellular signaling: the intercalated disc. Biophys Rev 2018;10:961-971.
21. Garcia-Gras E, Lombardi R, Giocondo MJ, et al. Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 2006;116:2012-21.
22. Chen SN, Gurha P, Lombardi R, Ruggiero A, Willerson JT, Marian AJ. The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy. Circ Res 2014;114:454-68.
23. Hall CL, Gurha P, Sabater-Molina M, et al. RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy. Int J Cardiol 2020;302:124-30.
24. Puzzi L, Borin D, Gurha P, et al. Knock down of plakophillin 2 dysregulates adhesion pathway through upregulation of miR200b and alters the mechanical properties in cardiac cells. Cells 2019;8:1639.
25. Lombardi R, da Graca Cabreira-Hansen M, Bell A, Fromm RR, Willerson JT, Marian AJ. Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy. Circ Res 2011;109:1342-53.
26. Lombardi R, Chen SN, Ruggiero A, et al. Cardiac fibro-adipocyte progenitors express desmosome proteins and preferentially differentiate to adipocytes upon deletion of the desmoplakin gene. Circ Res 2016;119:41-54.
27. Lombardi R, Dong J, Rodriguez G, et al. Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy. Circ Res 2009;104:1076-84.
28. Asimaki A, Kapoor S, Plovie E, et al. Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy. Sci Transl Med 2014;6:240ra74.
29. Chelko SP, Asimaki A, Andersen P, et al. Central role for GSK3beta in the pathogenesis of arrhythmogenic cardiomyopathy. JCI Insight 2016;1:e85923.
30. Cheedipudi SM, Hu J, Fan S, et al. Exercise restores dysregulated gene expression in a mouse model of arrhythmogenic cardiomyopathy. Cardiovasc Res 2020;116:1199-1213.
31. Cheedipudi SM, Matkovich SJ, Coarfa C, et al. Genomic reorganization of lamin-associated domains in cardiac myocytes is associated with differential gene expression and DNA methylation in human dilated cardiomyopathy. Circ Res 2019;124:1198-1213.
32. Liu J, Pan S, Hsieh MH, et al. Targeting Wnt-driven cancer through the inhibition of Porcupine by LGK974. Proc Natl Acad Sci U S A 2013;110:20224-9.
33. Moon J, Zhou H, Zhang LS, et al. Blockade to pathological remodeling of infarcted heart tissue using a porcupine antagonist. Proc Natl Acad Sci U S A 2017;114:1649-54.
34. Auguste G, Gurha P, Lombardi R, Coarfa C, Willerson JT, Marian AJ. Suppression of activated FOXO transcription factors in the heart prolongs survival in a mouse model of laminopathies. Circ Res 2018;122:678-92.
35. Auguste G, Rouhi L, Matkovich SJ, et al. BET bromodomain inhibition attenuates cardiac phenotype in myocyte-specific lamin A/C-deficient mice. J Clin Invest 2020;130:4740-58.
36. Rouhi L, Cheedipudi SM, Chen SN, et al. Haplo-insufficiency of Tmem43 in cardiac myocytes activates the DNA damage response pathway leading to a Late-Onset Senescence-Associated pro-fibrotic cardiomyopathy. Cardiovasc Res 2020:cvaa300.
37. Bergmann O, Jovinge S. Isolation of cardiomyocyte nuclei from post-mortem tissue. J Vis Exp 2012:4205.
38. Bergmann O, Zdunek S, Alkass K, Druid H, Bernard S, Frisén J. Identification of cardiomyocyte nuclei and assessment of ploidy for the analysis of cell turnover. Exp Cell Res 2011;317:188-94.
39. Ross SE, Hemati N, Longo KA, et al. Inhibition of adipogenesis by Wnt signaling. Science 2000;289:950-3.
40. Xiang FL, Fang M, Yutzey KE. Loss of beta-catenin in resident cardiac fibroblasts attenuates fibrosis induced by pressure overload in mice. Nat Commun 2017;8:712.
41. Daskalopoulos EP, Blankesteijn WM. Effect of interventions in WNT signaling on healing of cardiac injury: a systematic review. Cells 2021;10:207.
42. Padrón-Barthe L, Villalba-Orero M, Gómez-Salinero JM, et al. Severe cardiac dysfunction and death caused by arrhythmogenic right ventricular cardiomyopathy type 5 are improved by inhibition of glycogen synthase kinase-3beta. Circulation 2019;140:1188-204.
43. Hariharan V, Asimaki A, Michaelson JE, et al. Arrhythmogenic right ventricular cardiomyopathy mutations alter shear response without changes in cell-cell adhesion. Cardiovasc Res 2014;104:280-9.